Gilgenkrantz S, Fryns J P, Droulle P, Schweitzer M, Chadefaux B, Prieur M
J Genet Hum. 1987 Jan;35(1):51-61.
In two cases, first interpreted as mosaic tetrasomy 21, the R banding and the gene dosage studies lead us to conclude to a mosaic tetrasomy 12 p. In Pallister mosaic syndrome and in Teschler-Nicola/Killian syndrome, the very similar clinical signs and the identical abnormal chromosome, missing in leucocytes, led us to conclude that Pallister and Teschler-Nicola/Killian syndrome, as well as mosaic tetrasomy 21 are one and the same syndrome tetrasomy 12 p. This tissue limited mosaic is probably more frequent than it is assumed. Prenatal diagnosis can be made since the supernumerary chromosome is found in amniocytes. The distinctive tissue distribution is probably a selective process due to cellular differentiation gene, CD9 (or Alb 6) located to 12 p.
在两例最初被解释为21号染色体镶嵌性四体的病例中，R显带和基因剂量研究使我们得出结论，其为12号染色体短臂镶嵌性四体。在帕利斯特镶嵌综合征和特施勒 - 尼古拉/基利安综合征中，非常相似的临床体征以及白细胞中缺失的相同异常染色体，使我们得出结论，帕利斯特综合征和特施勒 - 尼古拉/基利安综合征以及镶嵌性21号染色体四体均为同一综合征——12号染色体短臂四体。这种组织局限性镶嵌可能比我们想象的更为常见。由于在羊水中发现了额外染色体，因此可以进行产前诊断。这种独特的组织分布可能是由于位于12号染色体短臂上的细胞分化基因CD9（或Alb 6）导致的选择性过程。
